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Medical genetics: A self-instruction guide and workbook based on Mendelian Inheritance in Man
BOOK REVIEWS
V
Blending Bytes and Book Medical Genetics: A SelfInstruction Guide and Workbook Based on Mendelian Inheritance in Man By Victor A. McKusick.
Baltimore, Johns
Hopkins, 1993, paperback spiralbound $30.00 (125 pages), ISBN O-8018-4796-4. The knowledge of human genetic diseases is huge. Although each of the diseases may be rare, in the aggregate the genetic diseases comprise a vast array of conditions, too vast to be held in a person’s memory or in any personal library. To provide this information to those that need it, the altruistic geneticists at Johns Hopkins have made it available online or on a CD-ROM. Here is a sign of things to come-a storehouse of knowledge available on a computer, instead of on library shelves. The electronic storage of information has one great advantage over print-ease of retrieval. To find needed information in books it is necessary to consult multiple indices, hoping that the volumes have been well indexed. To search a file electronically is much easier and quicker. Type in a key word or two and all references to the key words are available in a flash. Victor McKusick is the greatest living authority on medical genetics. He has provided a small book of self-instruction that taps the information resources of the Johns Hopkins databank of human genetic diseases for all to use. As he states in the book, “This guidebook is for all levels, for medical students, graduate students, residents, fellows, and experts who wish to enhance their knowledge and understanding in the vastly advancing field of medical genetics.” In addition to providing instruction in human genetics, the book and its database in Baltimore provide a useful means of getting to know how to access information in the data base and use it to solve problems in medical genetics. Medical genetics must form part of the training and fund of knowledge of the endocrinologist. Whether in the laboratory or in practice, endocrinology faces genetic considerations often. The chromosomal abnormalities, the enzyme deletions, the blatant inherited endocrine and metabolic disorders, all add up to a considerable
354
fraction of endocrinology and metabolism. This book opens the door to the application of new technology to learning and using genetics. The book, designed to be used in conjunction with Mendelian Inheritance in Man available in print, online, or on CD-ROM, is structured in an examination question format of problems that cover a wide spectrum of basic and applied genetics. The meaning of genetic technical terms, abbreviations, acronyms, and eponyms comprises the first part of the book, as is befitting of what has become the new language of molecular genetics. The mechanisms and phenomena of classic and nonclassic inheritance, principles of clinical genetics and inherited metabolic diseases, gene structure, mutation, developmental genetics, congenital anomalies, linkage and mapping, population genetics and evolution, animal models of human genetic diseases, diagnosis, and the clinical
course of the genetic diseases are samples of the rich range of topics in the book. Information is included on how to reach and search the database in Baltimore to find the answers to the questions. A few answers are included in the book. I am absolutely convinced that Mendelian Inheritance in Man is the forerunner of many books of its nature, combining print and electronic media for instruction and recall of data. On a practical level, the book provides excellent practice for the genetics portions of licensing and certification examinations. Victor McKusick is to be thanked for his intellectual contributions to medical education and practice of medicine. TEM Ahmad S. Teebi Division of Medical Genetics McGill University The Montreal Children’s Hospital Montreal, Quebec, Canada H3H 1 P3
Road Maps in the Cell Metabolism at a Glance
visitor. As the years passed and knowledge grew, the maps became more and more By J. G. Salway. Oxford, Blackwell, 1994, complex, with metabolic pathways and paperback $24.95 (95 pages), ISBN 0-6320- cycles intersecting and intertwining. The 3258-8. molecular biology revolution added a whole new dimension to the maps. How can Many years ago I taught a course in anyone working in the area of endocrinolbiochemistry to 225 undergraduates. It ogy and metabolism even attempt to be was a challenge to prepare and deliver aware of the details? Often, in reading or three lectures a week for 6 months. My task discussing a metabolic quirk in the literawas complicated by the insistence of the ture or in a patient, we are forced to refer chairman of the department that he deliver again to a metabolic map to trace the the first lecture so that “I can show them consequences of the aberration and thereby the big picture.” He did-he displayed a try to explain the laboratory findings. slide of a metabolic map on the screen and Metabolic maps are useful, but their complexannounced to the class that as scary as it ity is awesome. looks, they would become familiar with the Now help is at hand, J. G. Salway, of the details by the end of the course. There was School of Biological Sciences in Guilford, an immediate exodus of students to enroll Surrey, England, has made available an in another course. I don’t know how many atlas based on the wall-sized metabolic students he frightened off. map. He has designed an ingenious method of highlighting each major pathway or Metabolic maps have been available for cycle in the grand scheme so that the role in decades, usually as freebies from publishthe entire map is located and the details of ers or suppliers or even from professional societies. They grace many professorial the reactions of the pathway or cycle are clearly explained. One caveat-the metawalls and are very impressive to the casual
01994. ElsevierScience Inc., 1043-2760/94/$7.00
TEM Vol. 5, No. 8, 1994
V
Blending Bytes and Book Medical Genetics: A SelfInstruction Guide and Workbook Based on Mendelian Inheritance in Man By Victor A. McKusick.
Baltimore, Johns
Hopkins, 1993, paperback spiralbound $30.00 (125 pages), ISBN O-8018-4796-4. The knowledge of human genetic diseases is huge. Although each of the diseases may be rare, in the aggregate the genetic diseases comprise a vast array of conditions, too vast to be held in a person’s memory or in any personal library. To provide this information to those that need it, the altruistic geneticists at Johns Hopkins have made it available online or on a CD-ROM. Here is a sign of things to come-a storehouse of knowledge available on a computer, instead of on library shelves. The electronic storage of information has one great advantage over print-ease of retrieval. To find needed information in books it is necessary to consult multiple indices, hoping that the volumes have been well indexed. To search a file electronically is much easier and quicker. Type in a key word or two and all references to the key words are available in a flash. Victor McKusick is the greatest living authority on medical genetics. He has provided a small book of self-instruction that taps the information resources of the Johns Hopkins databank of human genetic diseases for all to use. As he states in the book, “This guidebook is for all levels, for medical students, graduate students, residents, fellows, and experts who wish to enhance their knowledge and understanding in the vastly advancing field of medical genetics.” In addition to providing instruction in human genetics, the book and its database in Baltimore provide a useful means of getting to know how to access information in the data base and use it to solve problems in medical genetics. Medical genetics must form part of the training and fund of knowledge of the endocrinologist. Whether in the laboratory or in practice, endocrinology faces genetic considerations often. The chromosomal abnormalities, the enzyme deletions, the blatant inherited endocrine and metabolic disorders, all add up to a considerable
354
fraction of endocrinology and metabolism. This book opens the door to the application of new technology to learning and using genetics. The book, designed to be used in conjunction with Mendelian Inheritance in Man available in print, online, or on CD-ROM, is structured in an examination question format of problems that cover a wide spectrum of basic and applied genetics. The meaning of genetic technical terms, abbreviations, acronyms, and eponyms comprises the first part of the book, as is befitting of what has become the new language of molecular genetics. The mechanisms and phenomena of classic and nonclassic inheritance, principles of clinical genetics and inherited metabolic diseases, gene structure, mutation, developmental genetics, congenital anomalies, linkage and mapping, population genetics and evolution, animal models of human genetic diseases, diagnosis, and the clinical
course of the genetic diseases are samples of the rich range of topics in the book. Information is included on how to reach and search the database in Baltimore to find the answers to the questions. A few answers are included in the book. I am absolutely convinced that Mendelian Inheritance in Man is the forerunner of many books of its nature, combining print and electronic media for instruction and recall of data. On a practical level, the book provides excellent practice for the genetics portions of licensing and certification examinations. Victor McKusick is to be thanked for his intellectual contributions to medical education and practice of medicine. TEM Ahmad S. Teebi Division of Medical Genetics McGill University The Montreal Children’s Hospital Montreal, Quebec, Canada H3H 1 P3
Road Maps in the Cell Metabolism at a Glance
visitor. As the years passed and knowledge grew, the maps became more and more By J. G. Salway. Oxford, Blackwell, 1994, complex, with metabolic pathways and paperback $24.95 (95 pages), ISBN 0-6320- cycles intersecting and intertwining. The 3258-8. molecular biology revolution added a whole new dimension to the maps. How can Many years ago I taught a course in anyone working in the area of endocrinolbiochemistry to 225 undergraduates. It ogy and metabolism even attempt to be was a challenge to prepare and deliver aware of the details? Often, in reading or three lectures a week for 6 months. My task discussing a metabolic quirk in the literawas complicated by the insistence of the ture or in a patient, we are forced to refer chairman of the department that he deliver again to a metabolic map to trace the the first lecture so that “I can show them consequences of the aberration and thereby the big picture.” He did-he displayed a try to explain the laboratory findings. slide of a metabolic map on the screen and Metabolic maps are useful, but their complexannounced to the class that as scary as it ity is awesome. looks, they would become familiar with the Now help is at hand, J. G. Salway, of the details by the end of the course. There was School of Biological Sciences in Guilford, an immediate exodus of students to enroll Surrey, England, has made available an in another course. I don’t know how many atlas based on the wall-sized metabolic students he frightened off. map. He has designed an ingenious method of highlighting each major pathway or Metabolic maps have been available for cycle in the grand scheme so that the role in decades, usually as freebies from publishthe entire map is located and the details of ers or suppliers or even from professional societies. They grace many professorial the reactions of the pathway or cycle are clearly explained. One caveat-the metawalls and are very impressive to the casual
01994. ElsevierScience Inc., 1043-2760/94/$7.00
TEM Vol. 5, No. 8, 1994